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dbVar

Database of genomic structural variation

nsv3318511

Organism: Homo sapiens

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

Variant Calls:4
Validation:Not tested
Clinical Assertions: No
Region Size:78,417

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: 268 SVs from 52 studies. See in: genome view

Remapped(Score: Perfect):126,964,680-127,043,096

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3318511	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	126,964,680	127,043,096
nsv3318511	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	126,683,523	126,761,939

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14467667	copy number gain	M1206	SNP array	SNP genotyping analysis	63
nssv14468108	copy number gain	M2129	SNP array	SNP genotyping analysis	38
nssv14469686	copy number gain	M2258	SNP array	SNP genotyping analysis	31
nssv14470390	copy number gain	M2337	SNP array	SNP genotyping analysis	36

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv14467667	Remapped	Perfect	NC_000003.12:g.(?_ 126964680)_(127043 096_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	126,964,680	127,043,096
nssv14468108	Remapped	Perfect	NC_000003.12:g.(?_ 126964680)_(127043 096_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	126,964,680	127,043,096
nssv14469686	Remapped	Perfect	NC_000003.12:g.(?_ 126964680)_(127043 096_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	126,964,680	127,043,096
nssv14470390	Remapped	Perfect	NC_000003.12:g.(?_ 126964680)_(127043 096_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	126,964,680	127,043,096
nssv14467667	Submitted genomic		NC_000003.11:g.(?_ 126683523)_(126761 939_?)dup	GRCh37 (hg19)		NC_000003.11	Chr3	126,683,523	126,761,939
nssv14468108	Submitted genomic		NC_000003.11:g.(?_ 126683523)_(126761 939_?)dup	GRCh37 (hg19)		NC_000003.11	Chr3	126,683,523	126,761,939
nssv14469686	Submitted genomic		NC_000003.11:g.(?_ 126683523)_(126761 939_?)dup	GRCh37 (hg19)		NC_000003.11	Chr3	126,683,523	126,761,939
nssv14470390	Submitted genomic		NC_000003.11:g.(?_ 126683523)_(126761 939_?)dup	GRCh37 (hg19)		NC_000003.11	Chr3	126,683,523	126,761,939

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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