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dbVar

Database of genomic structural variation

nsv4685982

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:2,123,019

Description:GRCh37/hg19 5q35.2-35.3(chr5:175346695-177469711)x1 AND Sotos syndrome
Publication(s):Tatton-Brown et al. 2004

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: 7241 SVs from 113 studies. See in: genome view

Remapped(Score: Perfect):175,919,692-178,042,710

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4685982	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	175,919,692	178,042,710
nsv4685982	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	175,346,695	177,469,711

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18830892	copy number loss	Multiple	Multiple	SOTOS SYNDROME 1; SOTOS1; Sotos Syndrome; Sotos syndrome; Sotos syndrome	Pathogenic	ClinVar	RCV003232270.6, VCV000975831.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18830892	Remapped	Perfect	NC_000005.10:g.(?_ 175919692)_(178042 710_?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	175,919,692	178,042,710
nssv18830892	Submitted genomic		NC_000005.9:g.(?_1 75346695)_(1774697 11_?)del	GRCh37 (hg19)		NC_000005.9	Chr5	175,346,695	177,469,711

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
nssv18830892	GRCh37: NC_000005.9:g.(?_175346695)_(177469711_?)del	copy number loss	de novo	SOTOS SYNDROME 1; SOTOS1; Sotos Syndrome; Sotos syndrome; Sotos syndrome	Pathogenic	ClinVar	RCV003232270.6, VCV000975831.2	1

No genotype data were submitted for this variant

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