A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7508



Internal ID15536356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:74257355..74265499hg38UCSC Ensembl
Outerchr2:74484482..74492626hg19UCSC Ensembl
Outerchr2:74337990..74346134hg18UCSC Ensembl
Outerchr2:74396137..74404281hg17UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg388145
hg198145
hg188145
hg178145
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2783
Supporting Variants
SamplesNA12156
Known GenesSLC4A5
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)nssv7508
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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