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dbVar

Database of genomic structural variation

nsv4388152

Organism: Homo sapiens

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

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:54,236

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: 1148 SVs from 89 studies. See in: genome view

Remapped(Score: Perfect):31,203,115-31,257,350

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4388152	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	31,203,115	31,257,350
nsv4388152	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187587.1	Chr12\|NT_1 87587.1	93,909	148,144
nsv4388152	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	31,356,049	31,410,284

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15634119	copy number gain	11-0026-003	SNP array	Genotyping	16
nssv15639203	copy number gain	14-0277-002	SNP array	Genotyping	19
nssv15647967	copy number gain	2-1315-003	SNP array	Genotyping	24

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15634119	Remapped	Perfect	NT_187587.1:g.(?_9 3909)_(148144_?)du p	GRCh38.p12	Second Pass	NT_187587.1	Chr12\|NT_1 87587.1	93,909	148,144
nssv15639203	Remapped	Perfect	NT_187587.1:g.(?_9 3909)_(148144_?)du p	GRCh38.p12	Second Pass	NT_187587.1	Chr12\|NT_1 87587.1	93,909	148,144
nssv15647967	Remapped	Perfect	NT_187587.1:g.(?_9 3909)_(148144_?)du p	GRCh38.p12	Second Pass	NT_187587.1	Chr12\|NT_1 87587.1	93,909	148,144
nssv15634119	Remapped	Perfect	NC_000012.12:g.(?_ 31203115)_(3125735 0_?)dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	31,203,115	31,257,350
nssv15639203	Remapped	Perfect	NC_000012.12:g.(?_ 31203115)_(3125735 0_?)dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	31,203,115	31,257,350
nssv15647967	Remapped	Perfect	NC_000012.12:g.(?_ 31203115)_(3125735 0_?)dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	31,203,115	31,257,350
nssv15634119	Submitted genomic		NC_000012.11:g.(?_ 31356049)_(3141028 4_?)dup	GRCh37 (hg19)		NC_000012.11	Chr12	31,356,049	31,410,284
nssv15639203	Submitted genomic		NC_000012.11:g.(?_ 31356049)_(3141028 4_?)dup	GRCh37 (hg19)		NC_000012.11	Chr12	31,356,049	31,410,284
nssv15647967	Submitted genomic		NC_000012.11:g.(?_ 31356049)_(3141028 4_?)dup	GRCh37 (hg19)		NC_000012.11	Chr12	31,356,049	31,410,284

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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