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dbVar

Database of genomic structural variation

nsv4449606

Organism: Homo sapiens

Study:nstd175 (Genome in a Bottle)
Variant Type:insertion
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

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

Description:SVTYPE=INS;REPTYPE=SIMPLEINS
Publication(s):Genome in a Bottle

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: 1133 SVs from 75 studies. See in: genome view

Remapped(Score: Perfect):241,987,326-241,987,326

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4449606	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	241,987,326	241,987,326
nsv4449606	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187523.1	Chr2\|NT_18 7523.1	26,021	26,021
nsv4449606	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_2	Second Pass	NT_187647.1	Chr2\|NT_18 7647.1	26,021	26,021
nsv4449606	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	242,929,477	242,929,477

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv15762979	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv15762979	Remapped	Perfect	NT_187523.1:g.2602 1_26022ins677	GRCh38.p12	Second Pass	NT_187523.1	Chr2\|NT_18 7523.1	26,021	26,021
nssv15762979	Remapped	Perfect	NT_187647.1:g.2602 1_26022ins677	GRCh38.p12	Second Pass	NT_187647.1	Chr2\|NT_18 7647.1	26,021	26,021
nssv15762979	Remapped	Perfect	NC_000002.12:g.241 987326_241987327in s677	GRCh38.p12	First Pass	NC_000002.12	Chr2	241,987,326	241,987,326
nssv15762979	Submitted genomic		NC_000002.11:g.242 929477_242929478in s677	GRCh37 (hg19)		NC_000002.11	Chr2	242,929,477	242,929,477

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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