A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1135253



Internal ID19267755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:148375817..148379226hg38UCSC Ensembl
Outerchr7:148072909..148076318hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg383410
hg193410
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3690n106
Supporting Variantsnssv3988810
SamplesKWS2
Known GenesCNTNAP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1135253
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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