Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv4350190

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:1,273,092

Description:GRCh37/hg19 19q13.11-13.12(chr19:35043556-36316644) AND not provided

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: 4350 SVs from 104 studies. See in: genome view

Remapped(Score: Perfect):34,552,651-35,825,742

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4350190	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	34,552,651	35,825,742
nsv4350190	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	35,043,556	36,316,644

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15606085	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV000767769.1, VCV000625761.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15606085	Remapped	Perfect	NC_000019.10:g.(?_ 34552651)_(3582574 2_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	34,552,651	35,825,742
nssv15606085	Submitted genomic		NC_000019.9:g.(?_3 5043556)_(36316644 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	35,043,556	36,316,644

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
nssv15606085	GRCh37: NC_000019.9:g.(?_35043556)_(36316644_?)del	copy number loss	de novo	not provided	Pathogenic	ClinVar	RCV000767769.1, VCV000625761.1

No genotype data were submitted for this variant

You are here: NCBI