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dbVar

Database of genomic structural variation

nsv3318561

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:22,976

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: 533 SVs from 67 studies. See in: genome view

Remapped(Score: Perfect):9,902,228-9,925,203

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3318561	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	9,902,228	9,925,203
nsv3318561	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	9,902,340	9,925,315

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14467965	copy number loss	M2121	SNP array	SNP genotyping analysis	17
nssv14468273	copy number loss	M2136	SNP array	SNP genotyping analysis	54
nssv14471318	copy number loss	M2432	SNP array	SNP genotyping analysis	17
nssv14471497	copy number loss	M2456	SNP array	SNP genotyping analysis	29

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv14467965	Remapped	Perfect	NC_000005.10:g.(?_ 9902228)_(9925203_ ?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,902,228	9,925,203
nssv14468273	Remapped	Perfect	NC_000005.10:g.(?_ 9902228)_(9925203_ ?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,902,228	9,925,203
nssv14471318	Remapped	Perfect	NC_000005.10:g.(?_ 9902228)_(9925203_ ?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,902,228	9,925,203
nssv14471497	Remapped	Perfect	NC_000005.10:g.(?_ 9902228)_(9925203_ ?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,902,228	9,925,203
nssv14467965	Submitted genomic		NC_000005.9:g.(?_9 902340)_(9925315_? )del	GRCh37 (hg19)		NC_000005.9	Chr5	9,902,340	9,925,315
nssv14468273	Submitted genomic		NC_000005.9:g.(?_9 902340)_(9925315_? )del	GRCh37 (hg19)		NC_000005.9	Chr5	9,902,340	9,925,315
nssv14471318	Submitted genomic		NC_000005.9:g.(?_9 902340)_(9925315_? )del	GRCh37 (hg19)		NC_000005.9	Chr5	9,902,340	9,925,315
nssv14471497	Submitted genomic		NC_000005.9:g.(?_9 902340)_(9925315_? )del	GRCh37 (hg19)		NC_000005.9	Chr5	9,902,340	9,925,315

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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