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dbVar

Database of genomic structural variation

nsv4578604

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:43,777

Description:GRCh37/hg19 12p12.1(chr12:23685093-23728869)x1 AND Lamb-Shaffer syndrome

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: 190 SVs from 39 studies. See in: genome view

Remapped(Score: Perfect):23,532,159-23,575,935

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv4578604	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	23,532,159	23,575,935
nsv4578604	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	23,685,093	23,728,869

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16091774	copy number loss	Multiple	Multiple	12p12.1 microdeletion syndrome; Developmental and speech delay due to SOX5 deficiency; LAMB-SHAFFER SYNDROME; LAMSHF; Lamb-shaffer syndrome	Pathogenic	ClinVar	RCV000857289.1, VCV000695076.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv16091774	Remapped	Perfect	NC_000012.12:g.(23 532159_?)_(?_23575 935)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	23,532,159	23,575,935
nssv16091774	Submitted genomic		NC_000012.11:g.(23 685093_?)_(?_23728 869)del	GRCh37 (hg19)		NC_000012.11	Chr12	23,685,093	23,728,869

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16091774	GRCh37: NC_000012.11:g.(23685093_?)_(?_23728869)del	copy number loss	de novo	12p12.1 microdeletion syndrome; Developmental and speech delay due to SOX5 deficiency; LAMB-SHAFFER SYNDROME; LAMSHF; Lamb-shaffer syndrome	Pathogenic	ClinVar	RCV000857289.1, VCV000695076.1	1

No genotype data were submitted for this variant

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