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dbVar

Database of genomic structural variation

nsv4748711

Organism: Homo sapiens

Study:nstd199 (Quan et al. 2021)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:49,064

Publication(s):Quan et al. 2021

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: 852 SVs from 88 studies. See in: genome view

Remapped(Score: Perfect):34,778,363-34,827,426

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4748711	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	34,778,363	34,827,426
nsv4748711	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NW_003315915.1	Chr4\|NW_00 3315915.1	270,692	319,755
nsv4748711	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	34,779,985	34,829,048

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16293261	deletion	Sequencing	Split read mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16293261	Remapped	Perfect	NW_003315915.1:g.2 70692_319755del	GRCh38.p12	Second Pass	NW_003315915.1	Chr4\|NW_00 3315915.1	270,692	319,755
nssv16293261	Remapped	Perfect	NC_000004.12:g.347 78363_34827426del	GRCh38.p12	First Pass	NC_000004.12	Chr4	34,778,363	34,827,426
nssv16293261	Submitted genomic		NC_000004.11:g.347 79985_34829048del	GRCh37 (hg19)		NC_000004.11	Chr4	34,779,985	34,829,048

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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