Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv3317418

Organism: Homo sapiens

Study:nstd157 (Frenkel 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:17,216

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: 193 SVs from 39 studies. See in: genome view

Remapped(Score: Perfect):59,794,050-59,811,265

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3317418	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	59,794,050	59,811,265
nsv3317418	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	60,086,249	60,103,464

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14470869	copy number loss	M2388	SNP array	SNP genotyping analysis	18
nssv14471242	copy number loss	M2425	SNP array	SNP genotyping analysis	21
nssv14471958	copy number loss	M2512	SNP array	SNP genotyping analysis	22

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv14470869	Remapped	Perfect	NC_000015.10:g.(?_ 59794050)_(5981126 5_?)del	GRCh38.p12	First Pass	NC_000015.10	Chr15	59,794,050	59,811,265
nssv14471242	Remapped	Perfect	NC_000015.10:g.(?_ 59794050)_(5981126 5_?)del	GRCh38.p12	First Pass	NC_000015.10	Chr15	59,794,050	59,811,265
nssv14471958	Remapped	Perfect	NC_000015.10:g.(?_ 59794050)_(5981126 5_?)del	GRCh38.p12	First Pass	NC_000015.10	Chr15	59,794,050	59,811,265
nssv14470869	Submitted genomic		NC_000015.9:g.(?_6 0086249)_(60103464 _?)del	GRCh37 (hg19)		NC_000015.9	Chr15	60,086,249	60,103,464
nssv14471242	Submitted genomic		NC_000015.9:g.(?_6 0086249)_(60103464 _?)del	GRCh37 (hg19)		NC_000015.9	Chr15	60,086,249	60,103,464
nssv14471958	Submitted genomic		NC_000015.9:g.(?_6 0086249)_(60103464 _?)del	GRCh37 (hg19)		NC_000015.9	Chr15	60,086,249	60,103,464

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

You are here: NCBI