A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2565



Internal ID15547128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:1202029..1247686hg38UCSC Ensembl
Outerchr2:1197715..1251458hg19UCSC Ensembl
Outerchr2:1187715..1234009hg18UCSC Ensembl
Outerchr2:1187715..1234009hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg387304
hg197304
hg187304
hg177304
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4383, nssv6808, nssv10202
SamplesNA12156, NA12878, NA18956
Known GenesSNTG2
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)nsv2565
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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