A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6314



Internal ID15190864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:19536753..19582095hg38UCSC Ensembl
OuterchrX:19554871..19600213hg19UCSC Ensembl
OuterchrX:19464792..19510134hg18UCSC Ensembl
OuterchrX:19314528..19359870hg17UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg3845343
hg1945343
hg1845343
hg1745343
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6824
Supporting Variants
SamplesNA12156
Known GenesSH3KBP1
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)nssv6314
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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