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dbVar

Database of genomic structural variation

nsv4384400

Organism: Homo sapiens

Study:nstd173 (Zarrei et al. 2019)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37 (hg19)

Variant Calls:7
Validation:Not tested
Clinical Assertions: No
Region Size:27,891

Publication(s):Zarrei et al. 2019

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: 877 SVs from 84 studies. See in: genome view

Remapped(Score: Perfect):73,529,437-73,557,327

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4384400	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	73,529,437	73,557,327
nsv4384400	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	73,996,141	74,024,031

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15621135	copy number loss	1-1010-002	SNP array	Genotyping	26
nssv15630939	copy number loss	1-0630-003	SNP array	Genotyping	28
nssv15637287	copy number gain	13-0053-001	SNP array	Genotyping	20
nssv15665196	copy number gain	7-0068-003	SNP array	Genotyping	26
nssv15671922	copy number loss	9-0020-002	SNP array	Genotyping	21
nssv15672252	copy number loss	9-0028-002	SNP array	Genotyping	20
nssv15686031	copy number loss	OCD176-8961182	SNP array	Genotyping	23

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15621135	Remapped	Perfect	NC_000014.9:g.(?_7 3529437)_(73557327 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	73,529,437	73,557,327
nssv15630939	Remapped	Perfect	NC_000014.9:g.(?_7 3529437)_(73557327 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	73,529,437	73,557,327
nssv15637287	Remapped	Perfect	NC_000014.9:g.(?_7 3529437)_(73557327 _?)dup	GRCh38.p12	First Pass	NC_000014.9	Chr14	73,529,437	73,557,327
nssv15665196	Remapped	Perfect	NC_000014.9:g.(?_7 3529437)_(73557327 _?)dup	GRCh38.p12	First Pass	NC_000014.9	Chr14	73,529,437	73,557,327
nssv15671922	Remapped	Perfect	NC_000014.9:g.(?_7 3529437)_(73557327 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	73,529,437	73,557,327
nssv15672252	Remapped	Perfect	NC_000014.9:g.(?_7 3529437)_(73557327 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	73,529,437	73,557,327
nssv15686031	Remapped	Perfect	NC_000014.9:g.(?_7 3529437)_(73557327 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	73,529,437	73,557,327
nssv15621135	Submitted genomic		NC_000014.8:g.(?_7 3996141)_(74024031 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	73,996,141	74,024,031
nssv15630939	Submitted genomic		NC_000014.8:g.(?_7 3996141)_(74024031 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	73,996,141	74,024,031
nssv15637287	Submitted genomic		NC_000014.8:g.(?_7 3996141)_(74024031 _?)dup	GRCh37 (hg19)		NC_000014.8	Chr14	73,996,141	74,024,031
nssv15665196	Submitted genomic		NC_000014.8:g.(?_7 3996141)_(74024031 _?)dup	GRCh37 (hg19)		NC_000014.8	Chr14	73,996,141	74,024,031
nssv15671922	Submitted genomic		NC_000014.8:g.(?_7 3996141)_(74024031 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	73,996,141	74,024,031
nssv15672252	Submitted genomic		NC_000014.8:g.(?_7 3996141)_(74024031 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	73,996,141	74,024,031
nssv15686031	Submitted genomic		NC_000014.8:g.(?_7 3996141)_(74024031 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	73,996,141	74,024,031

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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