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dbVar

Database of genomic structural variation

nsv5905

Organism: Homo sapiens

Study:nstd2 (Kidd et al. 2008)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:NCBI35 (hg17)

Variant Calls:2
Validation:Yes
Clinical Assertions: No
Region Size:76,373

Publication(s):Kidd et al. 2008

Links to Other Resources

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: 319 SVs from 64 studies. See in: genome view

Remapped(Score: Perfect):112,805,370-112,881,742

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv5905	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	112,805,370	112,881,742
nsv5905	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	112,445,425	112,521,797
nsv5905	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000007.11	Chr7	112,039,376	112,115,748

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv6162	deletion	NA12156	Sequencing	Paired-end mapping	3,265
nssv10575	deletion	NA18956	Sequencing	Paired-end mapping	905

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv6162	Remapped	Perfect	NC_000007.14:g.(11 2805370_?)_(?_1128 50956)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	112,805,370	112,850,956
nssv10575	Remapped	Perfect	NC_000007.14:g.(11 2844175_?)_(?_1128 81742)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	112,844,175	112,881,742
nssv6162	Remapped	Perfect	NC_000007.13:g.(11 2445425_?)_(?_1124 91011)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	112,445,425	112,491,011
nssv10575	Remapped	Perfect	NC_000007.13:g.(11 2484230_?)_(?_1125 21797)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	112,484,230	112,521,797
nssv6162	Submitted genomic		NC_000007.11:g.(11 2039376_?)_(?_1120 84962)del6163	NCBI35 (hg17)		NC_000007.11	Chr7	112,039,376	112,084,962
nssv10575	Submitted genomic		NC_000007.11:g.(11 2078181_?)_(?_1121 15748)del7861	NCBI35 (hg17)		NC_000007.11	Chr7	112,078,181	112,115,748

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv10575	3	NA18956	Multiple complete digestion	MCD analysis	Pass
nssv10575	5	NA18956	Oligo aCGH	Probe signal intensity	Pass
nssv10575	6	NA18956	Oligo aCGH	Probe signal intensity	Pass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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