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dbVar

Database of genomic structural variation

nsv4744503

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:1,957

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: 201 SVs from 38 studies. See in: genome view

Remapped(Score: Perfect):34,391,234-34,393,190

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4744503	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	34,391,234	34,393,190
nsv4744503	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187619.1	Chr19\|NT_1 87619.1	40,449	42,221
nsv4744503	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	34,882,139	34,884,095

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16275781	duplication	Sequencing	Split read mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16275781	Remapped	Pass	NT_187619.1:g.4044 9_42221dup	GRCh38.p12	Second Pass	NT_187619.1	Chr19\|NT_1 87619.1	40,449	42,221
nssv16275781	Remapped	Perfect	NC_000019.10:g.343 91234_34393190dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	34,391,234	34,393,190
nssv16275781	Submitted genomic		NC_000019.9:g.3488 2139_34884095dup	GRCh37 (hg19)		NC_000019.9	Chr19	34,882,139	34,884,095

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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