A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv437443



Internal ID15036175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:150959613..150961146hg38UCSC Ensembl
Outerchr4:150950321..150963161hg38UCSC Ensembl
Innerchr4:151880765..151882298hg19UCSC Ensembl
Outerchr4:151871473..151884313hg19UCSC Ensembl
Innerchr4:152100215..152101748hg18UCSC Ensembl
Outerchr4:152090923..152103763hg18UCSC Ensembl
Innerchr4:152458392..152459925hg16UCSC Ensembl
Outerchr4:152449100..152461940hg16UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg3812841
hg1912841
hg1812841
hg1612841
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv467324
SamplesNA18515
Known GenesLRBA
MethodSNP array
AnalysisOur algorithm aims to detect deletions that are transmitted from a hemizygous parent to a child. For each trio, every SNP was coded into one of seven categories: (A) Type I mendelian incompatibility (that is, consistent with deletion) involving mother; (B) Type I mendelian incompatibility involving father; (C) Type II mendelian incompatibility (that is, inconsistent with deletion); (D) child homozygous or missing data, both parents homozygous or missing data; (E) child homozygous or missing data, father heterozygous, mother homozygous or missing data; (F) child homozygous or missing data, mother heterozygous, father homozygous or missing data; (G) child heterozygous or both parents heterozygous (see Supplementary Methods for further details). SNPs were assigned to states D-G only if they did not contain mendelian incompatibilities. A run of consecutive SNPs in a particular trio was considered to be consistent with a maternal transmitted deletion if all SNPs were in states A, D or E, or with a paternal deletion if all SNPs were in states B, D or F.
PlatformNot reported
Comments
ReferenceConrad_et_al_2006
Pubmed ID16327808
Accession Number(s)nsv437443
Frequency
Sample Size60
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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