A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7723



Internal ID15206075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:31489365..31527748hg38UCSC Ensembl
Outerchr1:31962212..31993349hg19UCSC Ensembl
Outerchr1:31734799..31765936hg18UCSC Ensembl
Outerchr1:31631305..31662442hg17UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg388111
hg198111
hg188111
hg178111
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10798, nssv2021, nssv4095, nssv5475, nssv1048, nssv6542
SamplesNA12156, NA12878, NA18956, NA18555, NA19240, NA19129
Known GenesLOC149086, LOC284551
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv7723
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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