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dbVar

Database of genomic structural variation

nsv482765

Organism: Homo sapiens

Study:nstd40 (Sharp et al. 2006)
Variant Type:copy number variation
Method Type:BAC aCGH
Submitted on:NCBI34 (hg16)

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:170,516

Publication(s):Sharp et al. 2006

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 1466 SVs from 94 studies. See in: genome view

Remapped(Score: Perfect):21,441,987-21,612,502

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv482765	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	21,441,987	21,612,502
nsv482765	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	21,442,096	21,612,611
nsv482765	Submitted genomic		NCBI34 (hg16)	Primary Assembly		NC_000005.7	Chr5	21,487,597	21,658,112

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv3006071	copy number gain	BAC aCGH	Probe signal intensity
nssv3007179	copy number gain	BAC aCGH	Probe signal intensity
nssv3007874	copy number loss	BAC aCGH	Probe signal intensity
nssv3008238	copy number gain	BAC aCGH	Probe signal intensity
nssv3008501	copy number gain	BAC aCGH	Probe signal intensity

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv3006071	Remapped	Perfect	NC_000005.10:g.(?_ 21441987)_(2161250 2_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	21,441,987	21,612,502
nssv3007179	Remapped	Perfect	NC_000005.10:g.(?_ 21441987)_(2161250 2_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	21,441,987	21,612,502
nssv3007874	Remapped	Perfect	NC_000005.10:g.(?_ 21441987)_(2161250 2_?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	21,441,987	21,612,502
nssv3008238	Remapped	Perfect	NC_000005.10:g.(?_ 21441987)_(2161250 2_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	21,441,987	21,612,502
nssv3008501	Remapped	Perfect	NC_000005.10:g.(?_ 21441987)_(2161250 2_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	21,441,987	21,612,502
nssv3006071	Remapped	Perfect	NC_000005.9:g.(?_2 1442096)_(21612611 _?)dup	GRCh37.p13	First Pass	NC_000005.9	Chr5	21,442,096	21,612,611
nssv3007179	Remapped	Perfect	NC_000005.9:g.(?_2 1442096)_(21612611 _?)dup	GRCh37.p13	First Pass	NC_000005.9	Chr5	21,442,096	21,612,611
nssv3007874	Remapped	Perfect	NC_000005.9:g.(?_2 1442096)_(21612611 _?)del	GRCh37.p13	First Pass	NC_000005.9	Chr5	21,442,096	21,612,611
nssv3008238	Remapped	Perfect	NC_000005.9:g.(?_2 1442096)_(21612611 _?)dup	GRCh37.p13	First Pass	NC_000005.9	Chr5	21,442,096	21,612,611
nssv3008501	Remapped	Perfect	NC_000005.9:g.(?_2 1442096)_(21612611 _?)dup	GRCh37.p13	First Pass	NC_000005.9	Chr5	21,442,096	21,612,611
nssv3006071	Submitted genomic		NC_000005.7:g.(?_2 1487597)_(21658112 _?)dup	NCBI34 (hg16)		NC_000005.7	Chr5	21,487,597	21,658,112
nssv3007179	Submitted genomic		NC_000005.7:g.(?_2 1487597)_(21658112 _?)dup	NCBI34 (hg16)		NC_000005.7	Chr5	21,487,597	21,658,112
nssv3007874	Submitted genomic		NC_000005.7:g.(?_2 1487597)_(21658112 _?)del	NCBI34 (hg16)		NC_000005.7	Chr5	21,487,597	21,658,112
nssv3008238	Submitted genomic		NC_000005.7:g.(?_2 1487597)_(21658112 _?)dup	NCBI34 (hg16)		NC_000005.7	Chr5	21,487,597	21,658,112
nssv3008501	Submitted genomic		NC_000005.7:g.(?_2 1487597)_(21658112 _?)dup	NCBI34 (hg16)		NC_000005.7	Chr5	21,487,597	21,658,112

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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