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dbVar

Database of genomic structural variation

nsv3318145

Organism: Homo sapiens

Study:nstd157 (Frenkel et al. 2019)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37 (hg19)

Variant Calls:6
Validation:Not tested
Clinical Assertions: No
Region Size:7,651

Publication(s):Frenkel 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: 222 SVs from 57 studies. See in: genome view

Remapped(Score: Perfect):39,703,864-39,711,514

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3318145	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	39,703,864	39,711,514
nsv3318145	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	39,705,484	39,713,134

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14468271	copy number loss	M2136	SNP array	SNP genotyping analysis	54
nssv14469280	copy number loss	M2220	SNP array	SNP genotyping analysis	12
nssv14470067	copy number loss	M2304	SNP array	SNP genotyping analysis	18
nssv14470117	copy number loss	M2309	SNP array	SNP genotyping analysis	18
nssv14470257	copy number loss	M2323	SNP array	SNP genotyping analysis	19
nssv14471884	copy number loss	M2501	SNP array	SNP genotyping analysis	18

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv14468271	Remapped	Perfect	NC_000004.12:g.(?_ 39703864)_(3971151 4_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	39,703,864	39,711,514
nssv14469280	Remapped	Perfect	NC_000004.12:g.(?_ 39703864)_(3971151 4_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	39,703,864	39,711,514
nssv14470067	Remapped	Perfect	NC_000004.12:g.(?_ 39703864)_(3971151 4_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	39,703,864	39,711,514
nssv14470117	Remapped	Perfect	NC_000004.12:g.(?_ 39703864)_(3971151 4_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	39,703,864	39,711,514
nssv14470257	Remapped	Perfect	NC_000004.12:g.(?_ 39703864)_(3971151 4_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	39,703,864	39,711,514
nssv14471884	Remapped	Perfect	NC_000004.12:g.(?_ 39703864)_(3971151 4_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	39,703,864	39,711,514
nssv14468271	Submitted genomic		NC_000004.11:g.(?_ 39705484)_(3971313 4_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	39,705,484	39,713,134
nssv14469280	Submitted genomic		NC_000004.11:g.(?_ 39705484)_(3971313 4_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	39,705,484	39,713,134
nssv14470067	Submitted genomic		NC_000004.11:g.(?_ 39705484)_(3971313 4_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	39,705,484	39,713,134
nssv14470117	Submitted genomic		NC_000004.11:g.(?_ 39705484)_(3971313 4_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	39,705,484	39,713,134
nssv14470257	Submitted genomic		NC_000004.11:g.(?_ 39705484)_(3971313 4_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	39,705,484	39,713,134
nssv14471884	Submitted genomic		NC_000004.11:g.(?_ 39705484)_(3971313 4_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	39,705,484	39,713,134

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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