A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2710



Internal ID15200587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:145894631..145927475hg38UCSC Ensembl
Outerchr1:145507618..145540445hg19UCSC Ensembl
Outerchr1:144218975..144251802hg18UCSC Ensembl
Outerchr1:142996662..143029489hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg386446
hg196446
hg186446
hg176446
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5872
SamplesNA19129
Known GenesGNRHR2, ITGA10, LOC100288142, NBPF10, PEX11B, RBM8A
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)nsv2710
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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